Clinical and biochemical studies in homocystinuria.

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dc.contributor.authorKaur, Men_US
dc.contributor.authorKabra, Men_US
dc.contributor.authorDas, G Pen_US
dc.contributor.authorSuri, Men_US
dc.contributor.authorVerma, I Cen_US
dc.date.accessioned1995-10-01en_US
dc.date.accessioned2009-05-27T05:19:58Z
dc.date.available1995-10-01en_US
dc.date.available2009-05-27T05:19:58Z
dc.date.issued1995-10-01en_US
dc.description.abstractHomocystinuria was diagnosed in 15 (0.59%) cases on screening 2560 children for aminoacidopathies. The commonest presenting features were ectopia lentis (95%) and mental retardation (86%). Other features included, dental anomalies (40%), osteoporosis (40%), behavioral problems (33%) and arachnodactyly (13%). Diagnosis was confirmed by iodoplatinate staining of one dimensional paper chromatography of urine. All the 15 cases of homocystinuria were first treated with high dose oral pyridoxine. Only one case responded to pyridoxine therapy. All the other patients were started on a low methionine, High cysteine diet with folate supplementation. Only one patient showed a complete response to dietary therapy. Nonavailability and high cost of the commercially available methionine-free, cysteine-supplemented diet and late diagnosis were responsible for the poor response in the majority of our patients.en_US
dc.description.affiliationDepartment of Pediatrics, All India Institute of Medical Sciences, New Delhi.en_US
dc.identifier.citationKaur M, Kabra M, Das GP, Suri M, Verma IC. Clinical and biochemical studies in homocystinuria. Indian Pediatrics. 1995 Oct; 32(10): 1067-75en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/10083
dc.language.isoengen_US
dc.source.urihttps://indianpediatrics.neten_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshDeveloping Countriesen_US
dc.subject.meshEctopia Lentis --diagnosisen_US
dc.subject.meshFemaleen_US
dc.subject.meshHomocystinuria --drug therapyen_US
dc.subject.meshHumansen_US
dc.subject.meshIncidenceen_US
dc.subject.meshIndia --epidemiologyen_US
dc.subject.meshMaleen_US
dc.subject.meshMass Screeningen_US
dc.subject.meshMental Retardation --diagnosisen_US
dc.subject.meshPrognosisen_US
dc.subject.meshPyridoxine --administration & dosageen_US
dc.titleClinical and biochemical studies in homocystinuria.en_US
dc.typeJournal Articleen_US
dc.typeResearch Support, Non-U.S. Gov'ten_US
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